Surgical management of symptomatic cavum septum pellucidum cysts: systematic review of the literature

Neurosurgical Review - Cavum septum pellucidum (CSP) and cavum vergae (CV) cysts are commonly found incidentally. They are usually asymptomatic but may present with symptoms related to obstructive...     

Comparative study of complications after primary and revision transsphenoidal endoscopic surgeries

Neurosurgical Review - A preferred treatment for residual/recurrent pituitary adenomas has not been established. The existence of higher complication rates for revision surgeries remains under...     

Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

BackgroundMinigenes and in silico prediction tools are commonly used to assess the impact on splicing of CFTR variants. Exon skipping is often neglected though it could impact the efficacy of targeted therapies. The aim of the study was to identify exon skipping associated with CFTR variants and to evaluate in silico predictions of seven freely available software.MethodsCFTR basal exon skipping was evaluated on endogenous mRNA extracted from non-CF nasal cells and on two CFTR minigene banks. In silico tools and minigene systems were used to evaluate the impact of CFTR exonic variants on exon skipping.ResultsData showed that out of 65 CFTR variants tested, 26 enhanced exon skipping and that in silico prediction efficacy was of 50%-66%. Some in silico tools presented predictions with a bias towards the occurrence of splicing events while others presented a bias towards the absence of splicing events (non-detection including true negatives and false negatives). Classification of exons depending on their basal exon skipping level increased prediction rates up to 80%.ConclusionThis study indicates that taking basal exon skipping into account could orientate the choice of the in silico tools to improve prediction rates. It also highlights the need to validate effects using in vitro assays or mRNA studies in patients. Eventually, it shows that variant-guided therapy should also target exon skipping associated with variants.     

Normal and abnormal p21 h-ras posttranslational products in human neoplastic and nonneoplastic liver-tissues

Using two-dimensional Western blot analysis with a pan-ras antibody, we previously defined conditions that allow to resolve the four post-translational p21-H-ras products expressed in normal mature rat tissues. Using the same approach, we conducted experiments that sometimes revealed deviations from the normal basal p21-H-ras pattern in primary human liver tumors. One type of alteration encountered was indicative of modifications in the relative rate of accomplishment of the different steps in the post-translational metabolisation of the protein, resulting in the accumulation of precursors of the fully-processed p21-H-ras product. This was also observed during ontogenesis and might thus be correlated with either cellular growth potential or differentiation. The second type of altered pattern is defined by the detection of abnormal spots and probably corresponds to the presence of mutant p21-ras products.     

Benign and malignant hepatocellular tumors: evaluation of tumoral enhancement after mangafodipir trisodium injection on MR imaging

The aim of this work was to study the ability of mangafodipir trisodium (Mn-DPDP)-enhanced MR imaging in differentiating malignant from benign hepatocellular tumors. Eleven patients with pathologically proved hepatocellular carcinomas, six with focal nodular hyperplasias, and one with a single hepatocellular adenoma were examined by spin-echo and gradient-echo T1-weighted sequences before, 1 h after, and 24 h after intravenous injection of Mn-DPDP (5 μmol/kg). Quantitative analysis including enhancement and lesion-to-liver contrast-to-noise ratio, and qualitative analysis including the presence of a central area and a capsule were done on pre- and post-Mn-DPDP-enhanced images. Enhancement was observed in all the tumors with significant improvement (p < 0.05) in contrast-to-noise ratio 1 h after, and 24 h after intravenous injection of Mn-DPDP. There were no significant differences in the mean enhancement and the mean contrast-to-noise ratio (CNR) between benign and malignant tumors. No enhancement was seen within internal areas observed in 7 hepatocellular carcinomas, and in 5 focal nodular hyperplasias, and within capsules which were observed in 9 hepatocellular carcinomas. In our study, Mn-DPDP increased CNR of both benign and malignant tumors but did not enable differentiation between benign and malignant tumors of hepatocellular nature. Received: 7 October 1997; Revision received: 25 February 1998; Accepted: 10 July 1998